RS139695699 ABCA3

Health Risk Chr 16:2319819 snv missense variant

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Associated Conditions

Interstitial lung disease due to ABCA3 deficiency

Hereditary pulmonary alveolar proteinosis

ABCA3-related disorder

Interstitial lung disease due to ABCA3 deficiency

Hereditary pulmonary alveolar proteinosis

ABCA3-related disorder

Population Frequencies

gnomAD ALL

99.9%

1kG AFR

99.8%

1kG ALL

100%

1kG AMR

100%

1kG EAS

100%

1kG EUR

100%

1kG SAS

100%

Other Variants in ABCA3